|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for ZNF148 |
 Gene summary |
| Gene information | Gene symbol | ZNF148 | Gene ID | 7707 |
| Gene name | zinc finger protein 148 | |
| Synonyms | BERF-1|BFCOL1|GDACCF|HT-BETA|ZBP-89|ZFP148|pHZ-52 | |
| Cytomap | 3q21.2 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 148CACCC box-binding proteinCLL-associated antigen KW-10transcription factor ZBP-89zinc finger DNA-binding protein 89 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ZNF148 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12771217 |
| ZNF148 | GO:0010629 | negative regulation of gene expression | 12771217 |
| ZNF148 | GO:0045892 | negative regulation of transcription, DNA-templated | 12771217 |
Top |
Gene structures and expression levels for ZNF148 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
ENSG00000163848
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000485866.5 | ZNF148-206:protein_coding:ZNF148 | 2.051251e+01 | 9.378841e-01 | 7.267027e-06 | 8.053612e-05 |
| CB | UP | ENST00000497929.1 | ZNF148-210:lncRNA:ZNF148 | 1.411348e+00 | 2.108954e+00 | 2.398617e-04 | 1.552331e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ZNF148 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_129530 | chr3 | 125313564:125313656:125323388:125323444:125331158:125331238 | 125323388:125323444 |
| exon_skip_161814 | chr3 | 125313308:125313656:125323388:125323444:125331158:125331238 | 125323388:125323444 |
| exon_skip_167972 | chr3 | 125313564:125313656:125323309:125323444:125331158:125331238 | 125323309:125323444 |
| exon_skip_38214 | chr3 | 125313564:125313656:125314937:125315053:125323309:125323444 | 125314937:125315053 |
| exon_skip_73913 | chr3 | 125313564:125313656:125314937:125315053:125323309:125323349 | 125314937:125315053 |
| exon_skip_76454 | chr3 | 125234300:125234329:125277726:125277809:125279124:125279247 | 125277726:125277809 |
| exon_skip_77644 | chr3 | 125277726:125277809:125279124:125279247:125288103:125288228 | 125279124:125279247 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ZNF148 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000485866 | 125314937 | 125315053 | 3UTR-3UTR |
| ENST00000360647 | 125323309 | 125323444 | 3UTR-3UTR |
| ENST00000484491 | 125323388 | 125323444 | 3UTR-3UTR |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000485866 | 125314937 | 125315053 | 3UTR-3UTR |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000485866 | 125314937 | 125315053 | 3UTR-3UTR |
| ENST00000360647 | 125323309 | 125323444 | 3UTR-3UTR |
| ENST00000484491 | 125323388 | 125323444 | 3UTR-3UTR |
| ENST00000360647 | 125279124 | 125279247 | Frame-shift |
| ENST00000484491 | 125279124 | 125279247 | Frame-shift |
| ENST00000485866 | 125279124 | 125279247 | Frame-shift |
| ENST00000492394 | 125279124 | 125279247 | Frame-shift |
| ENST00000360647 | 125277726 | 125277809 | In-frame |
| ENST00000484491 | 125277726 | 125277809 | In-frame |
| ENST00000485866 | 125277726 | 125277809 | In-frame |
| ENST00000492394 | 125277726 | 125277809 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ZNF148 |
p-ENSG00000163848_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000360647 | 9668 | 794 | 125277726 | 125277809 | 1070 | 1152 | 194 | 222 |
| ENST00000484491 | 2969 | 794 | 125277726 | 125277809 | 886 | 968 | 194 | 222 |
| ENST00000485866 | 2977 | 794 | 125277726 | 125277809 | 1146 | 1228 | 194 | 222 |
| ENST00000492394 | 2966 | 794 | 125277726 | 125277809 | 886 | 968 | 194 | 222 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9UQR1 | 194 | 222 | 1 | 205 | Alternative sequence | ID=VSP_055938;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UQR1 | 194 | 222 | 1 | 205 | Alternative sequence | ID=VSP_055938;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UQR1 | 194 | 222 | 1 | 205 | Alternative sequence | ID=VSP_055938;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UQR1 | 194 | 222 | 1 | 205 | Alternative sequence | ID=VSP_055938;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UQR1 | 194 | 222 | 1 | 794 | Chain | ID=PRO_0000047427;Note=Zinc finger protein 148 |
| Q9UQR1 | 194 | 222 | 1 | 794 | Chain | ID=PRO_0000047427;Note=Zinc finger protein 148 |
| Q9UQR1 | 194 | 222 | 1 | 794 | Chain | ID=PRO_0000047427;Note=Zinc finger protein 148 |
| Q9UQR1 | 194 | 222 | 1 | 794 | Chain | ID=PRO_0000047427;Note=Zinc finger protein 148 |
| Q9UQR1 | 194 | 222 | 194 | 194 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UQR1 | 194 | 222 | 194 | 194 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UQR1 | 194 | 222 | 194 | 194 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UQR1 | 194 | 222 | 194 | 194 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| Q9UQR1 | 194 | 222 | 199 | 221 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q9UQR1 | 194 | 222 | 199 | 221 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q9UQR1 | 194 | 222 | 199 | 221 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Q9UQR1 | 194 | 222 | 199 | 221 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in ZNF148 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| Mayo | ENST00000360647 | 125323309 | 125323444 | hsa-miR-6730-5p | chr3:125323386-125323393 | 8mer-1a | chr3:125323371-125323393 | 157.00 | -18.62 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6747-3p | chr3:125314964-125314971 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6773-3p | chr3:125315038-125315045 | 8mer-1a | chr3:125315028-125315047 | 147.00 | -15.73 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4778-5p | chr3:125315041-125315048 | 8mer-1a | chr3:125315027-125315048 | 144.00 | -12.31 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4437 | chr3:125314980-125314987 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-12114 | chr3:125315029-125315036 | 8mer-1a | chr3:125315018-125315037 | 153.00 | -23.18 |
| Mayo | ENST00000360647 | 125323309 | 125323444 | hsa-miR-1305 | chr3:125323357-125323364 | 8mer-1a | chr3:125323343-125323364 | 160.00 | -16.06 |
| Mayo | ENST00000360647 | 125323309 | 125323444 | hsa-miR-5681b | chr3:125323411-125323418 | 8mer-1a | chr3:125323410-125323430 | 152.00 | -15.79 |
| Mayo | ENST00000484491 | 125323388 | 125323444 | hsa-miR-5681b | chr3:125323411-125323418 | 8mer-1a | chr3:125323410-125323430 | 152.00 | -15.79 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-939-3p | chr3:125314983-125314990 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-660-3p | chr3:125314967-125314974 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| Mayo | ENST00000485866 | 125314937 | 125315053 | hsa-miR-504-3p | chr3:125315025-125315032 | 8mer-1a | chr3:125315011-125315032 | 158.00 | -23.99 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6747-3p | chr3:125314964-125314971 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6773-3p | chr3:125315038-125315045 | 8mer-1a | chr3:125315028-125315047 | 147.00 | -15.73 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4778-5p | chr3:125315041-125315048 | 8mer-1a | chr3:125315027-125315048 | 144.00 | -12.31 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4437 | chr3:125314980-125314987 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-12114 | chr3:125315029-125315036 | 8mer-1a | chr3:125315018-125315037 | 153.00 | -23.18 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-939-3p | chr3:125314983-125314990 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-660-3p | chr3:125314967-125314974 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| MSBB | ENST00000485866 | 125314937 | 125315053 | hsa-miR-504-3p | chr3:125315025-125315032 | 8mer-1a | chr3:125315011-125315032 | 158.00 | -23.99 |
| ROSMAP | ENST00000360647 | 125323309 | 125323444 | hsa-miR-6730-5p | chr3:125323386-125323393 | 8mer-1a | chr3:125323371-125323393 | 157.00 | -18.62 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6747-3p | chr3:125314964-125314971 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-6773-3p | chr3:125315038-125315045 | 8mer-1a | chr3:125315028-125315047 | 147.00 | -15.73 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4778-5p | chr3:125315041-125315048 | 8mer-1a | chr3:125315027-125315048 | 144.00 | -12.31 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-4437 | chr3:125314980-125314987 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-12114 | chr3:125315029-125315036 | 8mer-1a | chr3:125315018-125315037 | 153.00 | -23.18 |
| ROSMAP | ENST00000360647 | 125323309 | 125323444 | hsa-miR-1305 | chr3:125323357-125323364 | 8mer-1a | chr3:125323343-125323364 | 160.00 | -16.06 |
| ROSMAP | ENST00000360647 | 125323309 | 125323444 | hsa-miR-5681b | chr3:125323411-125323418 | 8mer-1a | chr3:125323410-125323430 | 152.00 | -15.79 |
| ROSMAP | ENST00000484491 | 125323388 | 125323444 | hsa-miR-5681b | chr3:125323411-125323418 | 8mer-1a | chr3:125323410-125323430 | 152.00 | -15.79 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-939-3p | chr3:125314983-125314990 | 8mer-1a | chr3:125314964-125314991 | 153.00 | -28.56 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-660-3p | chr3:125314967-125314974 | 8mer-1a | chr3:125314953-125314977 | 165.00 | -33.76 |
| ROSMAP | ENST00000485866 | 125314937 | 125315053 | hsa-miR-504-3p | chr3:125315025-125315032 | 8mer-1a | chr3:125315011-125315032 | 158.00 | -23.99 |
Top |
SNVs in the skipped exons for ZNF148 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for ZNF148 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF148 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for ZNF148 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | TARDBP | exon_skip_38214 | 4.272990e-01 | 2.333124e-02 |
| IFG | PCBP2 | exon_skip_38214 | 5.832796e-01 | 1.122848e-03 |
Top |
RelatedDrugs for ZNF148 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ZNF148 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|